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1.
Pediatr Dermatol ; 35(1): e66-e67, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29110325

RESUMO

Stiff skin syndrome (SSS) is a rare, autosomal dominant cutaneous disorder with progressive, symmetric, sclerotic skin changes of the shoulders, hips, and thighs. In a recent publication, a distinct segmental variant of SSS was proposed. In this report we discuss the case of a boy with segmental SSS and review the current literature.


Assuntos
Bloqueadores do Receptor Tipo 1 de Angiotensina II/uso terapêutico , Contratura/tratamento farmacológico , Losartan/uso terapêutico , Dermatopatias Genéticas/tratamento farmacológico , Criança , Diagnóstico Diferencial , Humanos , Masculino , Pele/patologia
2.
Pediatr Dermatol ; 34(5): e257-e259, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28804924

RESUMO

Flagellate dermatitis, a cutaneous eruption in which the patient appears to have been whipped, has been described with antineoplastic agents and shiitake mushroom ingestion. A 15-year-old girl with metastatic Ewing sarcoma developed pruritic erythematous linear lesions on her trunk that became hyperpigmented over time during her first cycle of chemotherapy with doxorubicin, vincristine, cyclophosphamide, and ganitumab. Flagellate dermatitis was diagnosed based on clinical and histologic findings. Flagellate dermatitis (FD) is a rare cutaneous eruption named for its appearance, in which the patient appears to have been whipped. It has been associated with chemotherapeutic agents such as bleomycin . We report FD in a child that occurred during chemotherapy treatment that included doxorubicin.


Assuntos
Antibióticos Antineoplásicos/efeitos adversos , Doxorrubicina/efeitos adversos , Toxidermias/etiologia , Adolescente , Toxidermias/diagnóstico , Feminino , Humanos , Pele/patologia
3.
Eur J Med Genet ; 66(8): 104798, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37307869

RESUMO

PTEN hamartoma tumor syndromes (PHTS) comprise hamartomatous overgrowth syndromes associated with PTEN germline mutations. In this case report, we describe a variant identified by next generation sequencing causing peculiar dermatological and skeletal features not yet described in the literature. Being cognizant of such unique disease presentations in PHTS, that manifest at a very young age, could help facilitate a timely diagnosis by clinicians and thus the early education of families on active cancer surveillance. This specific case also strengthens the concept of variable presentation of PHTS and the need for genetic testing early on, even if not all criteria for PHTS are met for a formal clinical diagnosis.


Assuntos
Síndrome do Hamartoma Múltiplo , Humanos , Síndrome do Hamartoma Múltiplo/diagnóstico , Síndrome do Hamartoma Múltiplo/genética , Síndrome do Hamartoma Múltiplo/patologia , PTEN Fosfo-Hidrolase/genética , Testes Genéticos , Mutação em Linhagem Germinativa
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